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PCSK9

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene.
PCSK9
Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins

Predicted location

Intracellular, Secreted (different isoforms)

Single cell type specificity

Cell type enhanced (Hepatocytes, Alveolar cells type 2, Alveolar cells type 1, Gastric mucus-secreting cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (A-431, CACO-2, HaCaT, HeLa, RPTEC TERT1)

Interaction

Monomer. Can self-associate to form dimers and higher multimers which may have increased LDLR degrading activity. The precursor protein but not the mature protein may form multimers. Interacts with APOB, VLDLR, LRP8/APOER2 and BACE1. The full-length immature form (pro-PCSK9) interacts with SCNN1A, SCNN1B and SCNN1G. The pro-PCSK9 form (via C-terminal domain) interacts with LDLR. Interacts (via the C-terminal domain) with ANXA2 (via repeat Annexin 1); the interaction inhibits the degradation of LDLR (PubMed:18799458).

Molecular function

Hydrolase, Protease, Serine protease

More Types Infomation
More Infomation

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For Research Use Only. Not For Clinical Use.

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